Oral findings in Midline Syndrome: a case report and literature review
| Autor: | Josep Maria Ustrell-Torrent, Victòria Tallón-Walton, Maria Cristina Manzanares-Céspedes, Sirpa Arte, Patricia Carvalho-Lobato, Pekka Nieminen |
|---|---|
| Přispěvatelé: | Universitat de Barcelona |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
medicine.medical_specialty
Iris Encephalocele 03 medical and health sciences 0302 clinical medicine stomatognathic system Midline syndrome Dental abnormalities medicine Humans Abnormalities Multiple Hypertelorism Child Agenesis of the corpus callosum General Dentistry 030304 developmental biology 0303 health sciences Tooth Abnormalities business.industry Dental agenesis Syndrome CIENCIAS MÉDICAS [UNESCO] medicine.disease Dermatology Iris coloboma 3. Good health Surgery Cleft Palate Coloboma stomatognathic diseases Phenotype Otorhinolaryngology UNESCO::CIENCIAS MÉDICAS Etiology Female Malformacions Agenesis of Corpus Callosum medicine.symptom business Malformacions dentals Human abnormalities PAX9 030217 neurology & neurosurgery |
| Zdroj: | Dipòsit Digital de la UB Universidad de Barcelona Tallón Walton, Victòria ; Nieminen, Pekka ; Arte, Sirpa ; Ustrell Torrent, Josep Mª ; Carvalho Lobato, P. ; Manzanares Céspedes, María Cristina. Oral findings in Midline Syndrome : a case report and literature review. En: Medicina oral, patología oral y cirugía bucal. Ed. inglesa, 15 4 2010: 7 RODERIC. Repositorio Institucional de la Universitat de Valéncia instname Recercat. Dipósit de la Recerca de Catalunya |
| Popis: | We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital conditions, dental anomalies have only rarely been mentioned when reporting midline syndromes. These dental phenotypical traits, present in the patient and her family, could be considered part of the midline syndrome in carriers as well as in the patients. |
| Databáze: | OpenAIRE |
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